title: Spinocerebellar ataxia type 6 in Brazil.
abstract: Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.
authors.affiliation: Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. hagteive@mps.com.br
authors.forename: Hélio A G
authors.initials: HA
authors.lastname: Teive
authors.forename: Renato Puppi
authors.initials: RP
authors.lastname: Munhoz
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Lineu César
authors.initials: LC
authors.lastname: Werneck
mesh_terms: D000368:Aged; D044466:Asian People; D001938:Brazil; D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type